UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approach.

ABSTRACT:

Background

Fundamental to definitively identifying neonates at risk of developing significant hyperbilirubinemia is a better understanding of the genetic factors associated with early bilirubin rise. Previous genetic studies have focused on the UGT1A1 gene, associating common variation in the coding or promoter regions with qualitative assessments of bilirubin (i.e. significantly elevated or not). These studies have had conflicting results and limited success. We chose to approach the problem by focusing on the quantitative (absolute) change in bilirubin levels early in post-natal life. We apply this approach to the UGT1A1 gene--exploring the contribution of both rare and common variants to early bilirubin changes.

Methods

We sequenced the exons, PBREM, 5'-, and 3'- regions

SUBMITTER: Hanchard NA 

PROVIDER: S-EPMC3107779 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature